rs153248

Homo sapiens
T>C
EDIL3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0486 (14553/29908,GnomAD)
T==0492 (14326/29118,TOPMED)
T==0431 (2156/5008,1000G)
T==0489 (1886/3854,ALSPAC)
T==0467 (1732/3708,TWINSUK)
chr5:84174097 (GRCh38.p7) (5q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.84174097T>C
GRCh37.p13 chr 5NC_000005.9:g.83469915T>C

Gene: EDIL3, EGF like repeats and discoidin domains 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EDIL3 transcript variant 2NM_001278642.1:c.N/AIntron Variant
EDIL3 transcript variant 1NM_005711.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.529C=0.471
1000GenomesAmericanSub694T=0.400C=0.600
1000GenomesEast AsianSub1008T=0.300C=0.700
1000GenomesEuropeSub1006T=0.469C=0.531
1000GenomesGlobalStudy-wide5008T=0.431C=0.569
1000GenomesSouth AsianSub978T=0.420C=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.489C=0.511
The Genome Aggregation DatabaseAfricanSub8696T=0.519C=0.481
The Genome Aggregation DatabaseAmericanSub838T=0.360C=0.640
The Genome Aggregation DatabaseEast AsianSub1620T=0.281C=0.719
The Genome Aggregation DatabaseEuropeSub18452T=0.496C=0.504
The Genome Aggregation DatabaseGlobalStudy-wide29908T=0.486C=0.513
The Genome Aggregation DatabaseOtherSub302T=0.420C=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.492C=0.508
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.467C=0.533
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs1532480.00062alcohol dependence20201924

eQTL of rs153248 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs153248 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr58342710183427683E068-42232
chr58348356783483617E06813652
chr58348368683483754E06813771
chr58348625383486303E06816338
chr58348719183487421E06817276
chr58342710183427683E069-42232
chr58348065083480700E06910735
chr58348356783483617E06913652
chr58350829483508476E06938379
chr58346299683463046E070-6869
chr58342556083426462E071-43453
chr58342710183427683E071-42232
chr58348065083480700E07110735
chr58348418583484235E07114270
chr58342556083426462E072-43453
chr58342710183427683E072-42232
chr58348418583484235E07214270
chr58350829483508476E07238379
chr58342710183427683E074-42232
chr58348065083480700E07410735
chr58348719183487421E07417276
chr58348719183487421E08217276